Marelsson 2011 Abstract IOC61

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Marelsson S (2011) Mitochondrial dysfunction in children with unknown encephalopathy. MiPNet16.01.


Marelsson S (2011)

Event: IOC61

Introduction Mitochondrial disorders are extremely heterogeneous and can involve single tissue, such as the optic nerve to widespread pathologies including muscle disorders, peripheral neuropathies, encephalopathy, cardiomyopathies or complex multisystem disorders. The age at onset ranges from neonatal to adult life. Mitochondrial dysfunction is a relatively common disorder but the clinical and genetic variability makes it difficult to diagnose. Our primary hypothesis is that disturbance in mitochondrial respiratory chain can be diagnosed with blood test and skin biopsy, by combining structural (Blue native page) and functional information, with high-resolution respirometry of the respiratory chain in blood cells. This rapid diagnostic method can be used to diagnose the flora of undiagnosed and unknown encephalopathy in children today.

Methods Our aim is to 1. Establish reference material for mitochondrial normal function in children through high resolution respirometry by diagnosing thrombocytes and fibroblasts. We also want to establish reference material for structural information with Blue Native PAGE (BNP) in fibroblasts. 2. We want to use these methods in children with known mitochondrial disease to confirm that our methods are usefull. 3. We want to compare our methods to known methods today for diagnoses of mitochondrial disease (muscle biopsy). 4. We want to see the benefits of treatment by comparing results through BNP and respirometry before and after treatment. 5. We want to use these methods for diagnosis of unknown encephalopathy in children.

Results We have started collecting reference material from children from 0-17 years old. We collect blood and skin biopsy from healthy children that are having a small operation at the University Hospital in Lund. Our aim is to collect reference material from 60 children in different age groups. We also collect blood and skin biopsy from 30 newborn babies from the umbilical cord. We have also done respirometry on children that have both suspected mitochondrial disease and children with known mitochondrial disease. The results are promising. We have also taken skin biopsy from these children but we do not know the outcome yet. We have also started using our methods to look at children with autism and other encephalopathy.

Conclusion Mitochondrial dysfunction has been difficult to diagnose. Our methods give us the opportunity to diagnose mitochondrial dysfunction in unknown encephalopathy in children by a more rapid and simple way than before.

Labels: Pathology: Autism  Stress:Mitochondrial disease  Organism: Human  Tissue;cell: Blood cells, Fibroblast 

HRR: Oxygraph-2k